{"count":220239,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1408","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1406","results":[{"created":"2021-02-15T17:30:31.687337+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6395","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SHROOM3 as Amber List (moderate evidence)","entity_name":"SHROOM3","entity_type":"gene"},{"created":"2021-02-15T17:30:31.677174+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6395","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: shroom3 has been classified as Amber List (Moderate Evidence).","entity_name":"SHROOM3","entity_type":"gene"},{"created":"2021-02-15T17:30:14.240878+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6394","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SHROOM3 was added\ngene: SHROOM3 was added to Mendeliome. Sources: Expert Review\nMode of inheritance for gene: SHROOM3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SHROOM3 were set to 32621286\nPhenotypes for gene: SHROOM3 were set to Anencephaly; cleft lip and palate\nReview for gene: SHROOM3 was set to AMBER\nAdded comment: Animal model and other functional data link SHROOM3 to neural tube development. Single family reported with bi-allelic LoF in a fetus with anencephaly and CL/P. \nSources: Expert Review","entity_name":"SHROOM3","entity_type":"gene"},{"created":"2021-02-15T17:28:45.890465+11:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.102","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SHROOM3 as ready","entity_name":"SHROOM3","entity_type":"gene"},{"created":"2021-02-15T17:28:45.880787+11:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.102","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: shroom3 has been classified as Amber List (Moderate Evidence).","entity_name":"SHROOM3","entity_type":"gene"},{"created":"2021-02-15T17:28:20.226468+11:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.102","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SHROOM3 as Amber List (moderate evidence)","entity_name":"SHROOM3","entity_type":"gene"},{"created":"2021-02-15T17:28:20.212034+11:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.102","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: shroom3 has been classified as Amber List (Moderate Evidence).","entity_name":"SHROOM3","entity_type":"gene"},{"created":"2021-02-15T17:28:12.665962+11:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.101","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SHROOM3 was added\ngene: SHROOM3 was added to Clefting disorders. Sources: Expert Review\nMode of inheritance for gene: SHROOM3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SHROOM3 were set to 32621286\nPhenotypes for gene: SHROOM3 were set to Anencephaly; cleft lip and palate\nReview for gene: SHROOM3 was set to AMBER\nAdded comment: Animal model and other functional data link SHROOM3 to neural tube development. Single family reported with bi-allelic LoF in a fetus with anencephaly and CL/P. \nSources: Expert Review","entity_name":"SHROOM3","entity_type":"gene"},{"created":"2021-02-15T17:25:38.067766+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6393","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FLT3 as ready","entity_name":"FLT3","entity_type":"gene"},{"created":"2021-02-15T17:25:38.056929+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6393","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: flt3 has been classified as Red List (Low Evidence).","entity_name":"FLT3","entity_type":"gene"},{"created":"2021-02-15T17:25:28.510715+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6393","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: FLT3 as Red List (low evidence)","entity_name":"FLT3","entity_type":"gene"},{"created":"2021-02-15T17:25:28.502999+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6393","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: flt3 has been classified as Red List (Low Evidence).","entity_name":"FLT3","entity_type":"gene"},{"created":"2021-02-15T17:25:11.413550+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6392","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: FLT3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None","entity_name":"FLT3","entity_type":"gene"},{"created":"2021-02-14T21:36:51.863682+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.216","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MSL3 as ready","entity_name":"MSL3","entity_type":"gene"},{"created":"2021-02-14T21:36:51.857056+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.216","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: msl3 has been classified as Green List (High Evidence).","entity_name":"MSL3","entity_type":"gene"},{"created":"2021-02-14T21:36:42.412969+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3455","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MSL3 as ready","entity_name":"MSL3","entity_type":"gene"},{"created":"2021-02-14T21:36:42.401857+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3455","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: msl3 has been classified as Green List (High Evidence).","entity_name":"MSL3","entity_type":"gene"},{"created":"2021-02-14T21:36:30.612185+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3455","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MSL3 were changed from  to Basilicata-Akhtar syndrome, OMIM # 301032","entity_name":"MSL3","entity_type":"gene"},{"created":"2021-02-14T21:36:00.060689+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3454","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MSL3 were set to ","entity_name":"MSL3","entity_type":"gene"},{"created":"2021-02-14T21:35:30.058237+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3453","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: MSL3 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","entity_name":"MSL3","entity_type":"gene"},{"created":"2021-02-14T21:34:55.805273+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3452","user_name":"Zornitza Stark","item_type":"entity","text":"Deleted their comment","entity_name":"MSL3","entity_type":"gene"},{"created":"2021-02-14T21:34:41.214093+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3452","user_name":"Zornitza Stark","item_type":"entity","text":"commented on gene: MSL3: Well established ID gene. 2021 paper documents findings in 25 individuals. Variants found to be clustering in the terminal eight exons suggesting that truncating variants in the first five exons might be compensated by an alternative MSL3 transcript. Three-dimensional modeling of missense and splice variants indicated that these have a deleterious effect. The main clinical findings comprised developmental delay and intellectual disability ranging from mild to severe. Autism spectrum disorder, muscle tone abnormalities, and macrocephaly were common as well as hearing impairment and gastrointestinal problems. Hypoplasia of the cerebellar vermis emerged as a consistent magnetic resonance image (MRI) finding.","entity_name":"MSL3","entity_type":"gene"},{"created":"2021-02-14T21:34:40.217277+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3452","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: MSL3: Rating: GREEN; Mode of pathogenicity: None; Publications: 33173220; Phenotypes: Basilicata-Akhtar syndrome, OMIM # 301032; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","entity_name":"MSL3","entity_type":"gene"},{"created":"2021-02-14T21:33:41.482432+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6392","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MSL3 as ready","entity_name":"MSL3","entity_type":"gene"},{"created":"2021-02-14T21:33:41.475005+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6392","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: msl3 has been classified as Green List (High Evidence).","entity_name":"MSL3","entity_type":"gene"},{"created":"2021-02-14T21:33:26.444535+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6392","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MSL3 were changed from  to Basilicata-Akhtar syndrome, OMIM # 301032","entity_name":"MSL3","entity_type":"gene"},{"created":"2021-02-14T21:33:12.172487+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6391","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MSL3 were set to ","entity_name":"MSL3","entity_type":"gene"},{"created":"2021-02-14T21:32:53.467404+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6390","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: MSL3 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","entity_name":"MSL3","entity_type":"gene"},{"created":"2021-02-14T21:32:34.423412+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6389","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: MSL3: Rating: GREEN; Mode of pathogenicity: None; Publications: 33173220; Phenotypes: Basilicata-Akhtar syndrome, OMIM # 301032; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","entity_name":"MSL3","entity_type":"gene"},{"created":"2021-02-14T21:29:54.554742+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.216","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MSL3 were set to ","entity_name":"MSL3","entity_type":"gene"},{"created":"2021-02-14T21:29:24.353189+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.215","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: MSL3: Rating: GREEN; Mode of pathogenicity: None; Publications: 33173220; Phenotypes: ; Mode of inheritance: None","entity_name":"MSL3","entity_type":"gene"},{"created":"2021-02-14T21:28:43.731676+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.215","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MSL3 as ready","entity_name":"MSL3","entity_type":"gene"},{"created":"2021-02-14T21:28:43.719338+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.215","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: msl3 has been classified as Green List (High Evidence).","entity_name":"MSL3","entity_type":"gene"},{"created":"2021-02-14T21:28:14.503502+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.215","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MINPP1 as ready","entity_name":"MINPP1","entity_type":"gene"},{"created":"2021-02-14T21:28:14.495635+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.215","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: minpp1 has been classified as Green List (High Evidence).","entity_name":"MINPP1","entity_type":"gene"},{"created":"2021-02-14T21:27:40.568872+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3452","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TOE1 as ready","entity_name":"TOE1","entity_type":"gene"},{"created":"2021-02-14T21:27:40.560880+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3452","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: toe1 has been classified as Green List (High Evidence).","entity_name":"TOE1","entity_type":"gene"},{"created":"2021-02-14T21:26:49.968255+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3452","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TOE1 were changed from  to Pontocerebellar hypoplasia, type 7, MIM# 614969","entity_name":"TOE1","entity_type":"gene"},{"created":"2021-02-14T21:26:23.952429+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3451","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TOE1 were set to ","entity_name":"TOE1","entity_type":"gene"},{"created":"2021-02-14T21:25:52.906689+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3450","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TOE1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"TOE1","entity_type":"gene"},{"created":"2021-02-14T21:25:20.368959+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3449","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TOE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28092684; Phenotypes: Pontocerebellar hypoplasia, type 7, MIM# 614969; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TOE1","entity_type":"gene"},{"created":"2021-02-14T21:24:41.233600+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6389","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TOE1 as ready","entity_name":"TOE1","entity_type":"gene"},{"created":"2021-02-14T21:24:41.222564+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6389","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: toe1 has been classified as Green List (High Evidence).","entity_name":"TOE1","entity_type":"gene"},{"created":"2021-02-14T21:24:33.362568+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6389","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TOE1 were changed from  to Pontocerebellar hypoplasia, type 7, MIM# 614969","entity_name":"TOE1","entity_type":"gene"},{"created":"2021-02-14T21:24:18.597043+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6388","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TOE1 were set to ","entity_name":"TOE1","entity_type":"gene"},{"created":"2021-02-14T21:23:57.162079+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6387","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TOE1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"TOE1","entity_type":"gene"},{"created":"2021-02-14T21:23:37.678435+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6386","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TOE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28092684; Phenotypes: Pontocerebellar hypoplasia, type 7, MIM# 614969; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TOE1","entity_type":"gene"},{"created":"2021-02-14T21:22:52.043308+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.215","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TOE1 as ready","entity_name":"TOE1","entity_type":"gene"},{"created":"2021-02-14T21:22:52.031912+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.215","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: toe1 has been classified as Green List (High Evidence).","entity_name":"TOE1","entity_type":"gene"},{"created":"2021-02-14T21:22:44.798328+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.215","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TOE1 were changed from  to Pontocerebellar hypoplasia, type 7, MIM# 614969","entity_name":"TOE1","entity_type":"gene"},{"created":"2021-02-14T21:22:21.966690+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.214","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TOE1 were set to ","entity_name":"TOE1","entity_type":"gene"},{"created":"2021-02-14T21:21:58.856163+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.213","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TOE1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"TOE1","entity_type":"gene"},{"created":"2021-02-14T21:21:27.196634+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.212","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TOE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28092684; Phenotypes: Pontocerebellar hypoplasia, type 7, MIM# 614969; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TOE1","entity_type":"gene"},{"created":"2021-02-14T18:35:36.887460+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.212","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TUBB3 as ready","entity_name":"TUBB3","entity_type":"gene"},{"created":"2021-02-14T18:35:36.876949+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.212","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tubb3 has been classified as Green List (High Evidence).","entity_name":"TUBB3","entity_type":"gene"},{"created":"2021-02-14T18:35:31.856053+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.212","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TUBB3 were changed from  to Cortical dysplasia, complex, with other brain malformations 1, MIM# 614039","entity_name":"TUBB3","entity_type":"gene"},{"created":"2021-02-14T18:34:56.453107+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.211","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TUBB3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"TUBB3","entity_type":"gene"},{"created":"2021-02-14T18:34:24.270658+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.210","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TUBB3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cortical dysplasia, complex, with other brain malformations 1, MIM# 614039; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TUBB3","entity_type":"gene"},{"created":"2021-02-14T18:32:34.465788+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.210","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: VPS53 as ready","entity_name":"VPS53","entity_type":"gene"},{"created":"2021-02-14T18:32:34.457142+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.210","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: vps53 has been classified as Green List (High Evidence).","entity_name":"VPS53","entity_type":"gene"},{"created":"2021-02-14T18:32:30.207125+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.210","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: VPS53 were changed from  to Pontocerebellar hypoplasia, type 2E, MIM# 615851","entity_name":"VPS53","entity_type":"gene"},{"created":"2021-02-14T18:31:28.242653+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.209","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: VPS53 were set to ","entity_name":"VPS53","entity_type":"gene"},{"created":"2021-02-14T18:31:00.568866+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.208","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: VPS53 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"VPS53","entity_type":"gene"},{"created":"2021-02-14T18:30:35.339853+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.207","user_name":"Zornitza Stark","item_type":"entity","text":"Tag founder tag was added to gene: VPS53.","entity_name":"VPS53","entity_type":"gene"},{"created":"2021-02-14T18:30:25.512886+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.207","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: VPS53: Rating: GREEN; Mode of pathogenicity: None; Publications: 24577744, 30100179; Phenotypes: Pontocerebellar hypoplasia, type 2E, MIM# 615851; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"VPS53","entity_type":"gene"},{"created":"2021-02-14T18:28:54.704232+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.207","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: VRK1 as ready","entity_name":"VRK1","entity_type":"gene"},{"created":"2021-02-14T18:28:54.693527+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.207","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: vrk1 has been classified as Green List (High Evidence).","entity_name":"VRK1","entity_type":"gene"},{"created":"2021-02-14T18:28:45.711256+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6386","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: VRK1 as ready","entity_name":"VRK1","entity_type":"gene"},{"created":"2021-02-14T18:28:45.701217+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6386","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: vrk1 has been classified as Green List (High Evidence).","entity_name":"VRK1","entity_type":"gene"},{"created":"2021-02-14T18:28:37.412300+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6386","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: VRK1 were changed from  to Pontocerebellar hypoplasia type 1A, MIM# 607596; SMA","entity_name":"VRK1","entity_type":"gene"},{"created":"2021-02-14T18:28:17.611989+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6385","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: VRK1 were set to ","entity_name":"VRK1","entity_type":"gene"},{"created":"2021-02-14T18:27:58.099558+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6384","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: VRK1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"VRK1","entity_type":"gene"},{"created":"2021-02-14T18:27:37.156309+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6383","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: VRK1: Changed rating: GREEN; Changed phenotypes: Pontocerebellar hypoplasia type 1A, MIM# 607596, SMA","entity_name":"VRK1","entity_type":"gene"},{"created":"2021-02-14T18:26:55.909075+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.207","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: VRK1 were changed from  to Pontocerebellar hypoplasia type 1A, MIM# 607596","entity_name":"VRK1","entity_type":"gene"},{"created":"2021-02-14T18:26:22.578202+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.206","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: VRK1 were set to ","entity_name":"VRK1","entity_type":"gene"},{"created":"2021-02-14T18:25:42.387077+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.205","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: VRK1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"VRK1","entity_type":"gene"},{"created":"2021-02-14T18:25:12.569922+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.204","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: VRK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19646678, 21937992, 25609612; Phenotypes: Pontocerebellar hypoplasia type 1A, MIM# 607596; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"VRK1","entity_type":"gene"},{"created":"2021-02-14T18:21:26.161497+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6383","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SPTBN2 as ready","entity_name":"SPTBN2","entity_type":"gene"},{"created":"2021-02-14T18:21:26.151275+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6383","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sptbn2 has been classified as Green List (High Evidence).","entity_name":"SPTBN2","entity_type":"gene"},{"created":"2021-02-14T18:21:18.353412+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6383","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SPTBN2 were changed from  to Spinocerebellar ataxia, autosomal recessive 14, MIM# 615386; Spinocerebellar ataxia 5, MIM# 600224","entity_name":"SPTBN2","entity_type":"gene"},{"created":"2021-02-14T18:21:04.808170+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6382","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SPTBN2 were set to ","entity_name":"SPTBN2","entity_type":"gene"},{"created":"2021-02-14T18:20:44.612314+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6381","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SPTBN2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"SPTBN2","entity_type":"gene"},{"created":"2021-02-14T18:19:53.025547+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.204","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SPTBN2 as ready","entity_name":"SPTBN2","entity_type":"gene"},{"created":"2021-02-14T18:19:53.017357+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.204","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sptbn2 has been classified as Green List (High Evidence).","entity_name":"SPTBN2","entity_type":"gene"},{"created":"2021-02-14T18:19:50.562672+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.204","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SPTBN2 were changed from  to Spinocerebellar ataxia, autosomal recessive 14, MIM# 615386","entity_name":"SPTBN2","entity_type":"gene"},{"created":"2021-02-14T18:19:27.528019+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.203","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SPTBN2 were set to ","entity_name":"SPTBN2","entity_type":"gene"},{"created":"2021-02-14T18:18:57.704505+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.202","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SPTBN2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"SPTBN2","entity_type":"gene"},{"created":"2021-02-14T18:17:57.767102+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.201","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SPTBN2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23236289, 23838597, 22781464, 33318253; Phenotypes: Spinocerebellar ataxia, autosomal recessive 14, MIM# 615386; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SPTBN2","entity_type":"gene"},{"created":"2021-02-14T18:13:30.396032+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6380","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SEPSECS as ready","entity_name":"SEPSECS","entity_type":"gene"},{"created":"2021-02-14T18:13:30.383549+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6380","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sepsecs has been classified as Green List (High Evidence).","entity_name":"SEPSECS","entity_type":"gene"},{"created":"2021-02-14T18:13:23.179208+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6380","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SEPSECS were changed from  to Pontocerebellar hypoplasia type 2D, 613811; cerebellar ataxia and cognitive impairment","entity_name":"SEPSECS","entity_type":"gene"},{"created":"2021-02-14T18:13:01.796660+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6379","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SEPSECS were set to ","entity_name":"SEPSECS","entity_type":"gene"},{"created":"2021-02-14T18:12:41.189584+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6378","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SEPSECS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"SEPSECS","entity_type":"gene"},{"created":"2021-02-14T18:12:22.740385+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6377","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SEPSECS: Rating: GREEN; Mode of pathogenicity: None; Publications: 20920667, 25044680, 31748115, 29464431; Phenotypes: Pontocerebellar hypoplasia type 2D, MIM# 613811; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SEPSECS","entity_type":"gene"},{"created":"2021-02-14T18:11:31.520921+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.201","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SEPSECS as ready","entity_name":"SEPSECS","entity_type":"gene"},{"created":"2021-02-14T18:11:31.510099+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.201","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sepsecs has been classified as Green List (High Evidence).","entity_name":"SEPSECS","entity_type":"gene"},{"created":"2021-02-14T18:11:28.972778+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.201","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SEPSECS were changed from  to Pontocerebellar hypoplasia type 2D, MIM# 613811","entity_name":"SEPSECS","entity_type":"gene"},{"created":"2021-02-14T18:11:01.949687+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.200","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SEPSECS were set to ","entity_name":"SEPSECS","entity_type":"gene"},{"created":"2021-02-14T18:10:33.734252+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.199","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SEPSECS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"SEPSECS","entity_type":"gene"},{"created":"2021-02-14T18:10:05.218247+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.198","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SEPSECS: Rating: GREEN; Mode of pathogenicity: None; Publications: 20920667, 25044680, 31748115, 29464431; Phenotypes: Pontocerebellar hypoplasia type 2D, MIM# 613811; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SEPSECS","entity_type":"gene"}]}